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  2. EPHX2 - epoxide hydrolase 2 Gene

EPHX2 - epoxide hydrolase 2 Gene

Homo sapiens

Also known as CEH; SEH; ABHD20

Gene ID: 2053 | Gene type: protein coding

About EPHX2

Cytogenetic location: 8p21.2-p21.1 Genomic coordinates (GRCh38): 8:27,491,143-27,545,564 (from NCBI)

This gene has 12 transcripts (splice variants), 204 orthologues, 12 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 34.1), small intestine (RPKM 33.0) and 23 other tissues.

Summary

This gene encodes a member of the Epoxide Hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

EPHX2 Products(4)

mRNA Protein Name
NM_001256482.2 NP_001243411.1 bifunctional epoxide hydrolase 2 isoform 2
NM_001256483.2 NP_001243412.1 bifunctional epoxide hydrolase 2 isoform 3
NM_001256484.2 NP_001243413.1 bifunctional epoxide hydrolase 2 isoform 2
NM_001979.6 NP_001970.2 bifunctional epoxide hydrolase 2 isoform1

EPHX2 Protein Structure

HAD_2

HAD_2: Haloacid dehalogenase-like hydrolase (7 - 203)

Abhydrolase_1

Abhydrolase_1: alpha/beta hydrolase fold (286 - 539)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 555 a.a.
Protein Preferred Names Protein Names

bifunctional epoxide hydrolase 2

epoxide hydratase

Recombinant EPHX2 Proteins

Cat. No. Product Name Accession Purity
HY-P75227 EPHX2 Protein, Human (sf9, His) P34913-1/NP_001970.2 (M1-M555) ≥95%

Related Diseases

Diseases Alias
Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Fetal Hydantoin Syndrome

Dilantin Embryopathy

Phenytoin Embryopathy

Fetal Dihydantoin Syndrome

Phenytoin Embryofetopathy

Dysmorphism Due To Hydantoin

Staphyloenterotoxemia

Staphylococcal Food Poisoning

Staphylococcal Toxaemia Due To Food

Staphyloenterotoxicosis

Commensal Bacterial Infectious Disease
Ritter'S Disease

Staphylococcal Scalded Skin Syndrome

Pemphigus Neonatorum

Ritter Disease

Dermatitis Exfoliativa Neonatorum

Scalded Skin Syndrome

Toxic Epidermal Necrolysis, Subcorneal Type

Generalized Exfoliative Disease

Ssss

Ssss - [Staphylococcal Scalded Skin Syndrome]

Adult Respiratory Distress Syndrome

Acute Respiratory Distress Syndrome

Ards

Non-Cardiogenic Pulmonary Edema

Acute Lung Injury

Respiratory Distress Syndrome, Adult

Shock Lung

Acute Respiratory Distress

Respiratory Distress Syndrome

Adult Rds

Ali

Increased-Permeability Pulmonary Edema

Stiff Lung

Respiratory Distress Syndrome Adult

Pyomyositis

Tropical Pyomyositis

Myositis Tropicans

Myositis Purulenta Tropica

Pm

Suppurative Myositis

Purulent Myositis

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Scarlet Fever

Scarlatina

Scarlatina Nos

Intracranial Berry Aneurysm

Familial Aneurysmal Subarachnoid Hemorrhage

Familial Berry Aneurysm

Familial Intracranial Saccular Aneurysm

Saccular Cerebral Aneurysm

Aneurysm, Intracranial Berry

Aneurysmal Subarachnoid Hemorrhage

Aneurysm, Intracranial Berry, 1

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus EPHX2 VGNC VGNC:78487
Canis familiaris EPHX2 VGNC VGNC:40416
Macaca mulatta EPHX2 VGNC VGNC:81392
Bos taurus EPHX2 VGNC VGNC:28542
Mus musculus EPHX2 MGD MGI:99500
Rattus norvegicus EPHX2 RGD RGD:620732
Others EPHX2 NCBI